A novel mutation in TNNT3 associated with Sheldon-Hall syndrome in a Chinese family with vertical talus

European Journal of Medical Genetics

Volumn 54, Issue 3, 2011, Pages 351-353

  Zhao, Ning ^a   Jiang, Miao ^a   Han, Weitian ^a   Bian, Chaoying ^b   Li, Xuefu ^a   Huang, Fang ^a   Kong, Qi ^b   Li, Jianxin ^b  

^a Key Laboratory of Reproductive Health of Liaoning Province   (China)

^b Liaoning Research Institute of Family Planning   (China)

Author keywords

Distal arthrogryposis; Mutation; TNNT3

Indexed keywords

TROPONIN T; TROPONIN T3; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; CHILD; CHINESE; CLUBFOOT; CONTROLLED STUDY; FOOT MALFORMATION; GENETIC DISORDER; HAND MALFORMATION; HUMAN; LINKAGE ANALYSIS; MALE; MUSCULOSKELETAL DISEASE; MUTATION; PATHOGENESIS; POLYMERASE CHAIN REACTION; SCHOOL CHILD; SEQUENCE ANALYSIS; SHELDONE HALL SYNDROME; TALUS;

ABNORMALITIES, MULTIPLE; ARTHROGRYPOSIS; CHINA; CONTRACTURE; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; FOOT DEFORMITIES, CONGENITAL; HUMANS; MALE; MUTATION; MUTATION, MISSENSE; PEDIGREE; SYNDROME; TROPONIN T;

EID: 79955470813     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2011.03.002     Document Type: Article

References (7)

1. Bamshad M., Jorde L.B., Carey J.C. A revised and extended classification of the distal arthrogryposes. Am. J. Med. Genet. 1996, 65:277-281.
2. Sung S.S., Brassington A.M., Grannatt K., Rutherford A., Whitby F.G., Krakowiak P.A., Jorde L.B., Carey J.C., Bamshad M. Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes. Am. J. Hum. Genet. 2003, 72:681-690.
3. Gurnett C.A., Desruisseau D.M., McCall K., Choi R., Meyer Z.I., Talerico M., Miller S.E., Ju J.S., Pestronk A., Connolly A.M., Druley T.E., Weihl C.C., Dobbs M.B. Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1. Hum. Mol. Genet. 2010 Apr 1, 19(7):1165-1173.
4. Jiang M., Zhao X., Han W., Bian C., Li X., Wang G., Ao Y., Li Y., Yi D., Zhe Y., Lo W.H., Zhang X., Li J. A novel deletion in TNNI2 causes distal arthrogryposis in a large Chinese family with marked variability of expression. Hum. Genet. 2006 Sep, 120(2):238-242.
5. Sung S.S., Brassington A.M., Krakowiak P.A., Carey J.C., Jorde L.B., Bamshad M. Mutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2B. Am. J. Hum. Genet. 2003, 73:212-214.
6. Gurnett C.A., Alaee F., Desruisseau D., Boehm S., Dobbs M.B. Skeletal muscle contractile gene (TNNT3, MYH3, TPM2) mutations not found in vertical talus or clubfoot. Clin. Orthop. Relat. Res. 2009 May, 467(5):1195-1200.
7. Zhang S.L., Tang X.D., Zhang S.Z., Xu Y., Zhang Q.S., Hu Y., Pan X.F., Wang E.D., Shu X.H., Xiao Y., Huang Q. Epidemiologic survey of genetic disease and congenital malformation in Sichuan province. Hered. Dis. 1990 Sep, 7(8):172-181. 191-192.